rs1018001612, PRKN

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Microcephaly
CUI: C0025958
Disease: Microcephaly
27 0.925 0.120 6 161548873 missense variant C/T snv 2.8E-05 0.020 1.000 2 2019 2019
Drug Resistant Epilepsy
CUI: C1096063
Disease: Drug Resistant Epilepsy
35 0.925 0.120 6 161548873 missense variant C/T snv 2.8E-05 0.010 1.000 1 2019 2019